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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-117208916-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117208916&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117208916,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004716.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "NM_004716.4",
"protein_id": "NP_004707.2",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 785,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320934.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004716.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000320934.8",
"protein_id": "ENSP00000325917.3",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 785,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004716.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320934.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Ala597Thr",
"transcript": "ENST00000852297.1",
"protein_id": "ENSP00000522356.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 824,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852297.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1780G>A",
"hgvs_p": "p.Ala594Thr",
"transcript": "ENST00000928997.1",
"protein_id": "ENSP00000599056.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 821,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928997.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1726G>A",
"hgvs_p": "p.Ala576Thr",
"transcript": "ENST00000852289.1",
"protein_id": "ENSP00000522348.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 803,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852289.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1726G>A",
"hgvs_p": "p.Ala576Thr",
"transcript": "ENST00000928999.1",
"protein_id": "ENSP00000599058.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 803,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928999.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Ala569Thr",
"transcript": "ENST00000852296.1",
"protein_id": "ENSP00000522355.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 796,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852296.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Ala567Thr",
"transcript": "ENST00000852292.1",
"protein_id": "ENSP00000522351.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 794,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852292.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Ala564Thr",
"transcript": "ENST00000852287.1",
"protein_id": "ENSP00000522346.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 791,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852287.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Ala564Thr",
"transcript": "ENST00000852298.1",
"protein_id": "ENSP00000522357.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 791,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852298.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Ala564Thr",
"transcript": "ENST00000929000.1",
"protein_id": "ENSP00000599059.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 791,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929000.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Ala564Thr",
"transcript": "ENST00000950975.1",
"protein_id": "ENSP00000621034.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 791,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950975.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Ala563Thr",
"transcript": "ENST00000852291.1",
"protein_id": "ENSP00000522350.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 790,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852291.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Ala563Thr",
"transcript": "ENST00000950973.1",
"protein_id": "ENSP00000621032.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 790,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950973.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000524507.6",
"protein_id": "ENSP00000433841.2",
"transcript_support_level": 2,
"aa_start": 558,
"aa_end": null,
"aa_length": 785,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524507.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000676339.1",
"protein_id": "ENSP00000501995.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 785,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676339.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000928998.1",
"protein_id": "ENSP00000599057.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 785,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928998.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"transcript": "ENST00000950974.1",
"protein_id": "ENSP00000621033.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 785,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950974.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1669G>A",
"hgvs_p": "p.Ala557Thr",
"transcript": "ENST00000852294.1",
"protein_id": "ENSP00000522353.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 784,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852294.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Ala544Thr",
"transcript": "ENST00000852295.1",
"protein_id": "ENSP00000522354.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 771,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852295.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1612G>A",
"hgvs_p": "p.Ala538Thr",
"transcript": "ENST00000852293.1",
"protein_id": "ENSP00000522352.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 765,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852293.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Ala522Thr",
"transcript": "ENST00000852290.1",
"protein_id": "ENSP00000522349.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 749,
"cds_start": 1564,
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{
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"transcript": "NM_004716.4",
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"effects": [
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"inheritance_mode": "",
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{
"score": -2,
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}